A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128586



Internal ID18905366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:9258241..9260741hg38UCSC Ensembl
Outerchr1:9318300..9320800hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960497
SamplesKWS1
Known GenesH6PD
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128586
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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